Publications by authors named "Kuei-Jung Huang"
Article Synopsis
- * A study involving whole-exome sequencing of 11 Taiwanese patients with severe AIS identified over 200 potential rare genetic variants, but most were unique to single individuals.
- * Key genes linked to AIS were pinpointed, with one pathogenic variant shared among 35% of patients, indicating these genes play critical roles in the condition's development.
Marfan syndrome (MFS) is a rare disease that affects connective tissue, which causes abnormalities in several organ systems including the heart, eyes, bones, and joints. The autosomal dominant disorder was found to be strongly associated with , , and mutations. Although multiple genetic mutations have been reported, data from Asian populations are still limited.
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